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. 2018 Apr 19;8:6247. doi: 10.1038/s41598-018-24717-0

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© The Author(s) 2018

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Generation of iPSCs from human fibroblasts heterozygous and homozygous for the H1069Q mutation of ATP7B. (A) Human fibroblasts from control (WT/H1069Q) and patient (H1069Q/H1069Q) were induced to reprogram and after 21 days the presence of pluripotent stem cell colonies was assessed by immunofluorescence for expression of the stemness markers Oct4 and Nanog. Nuclei are stained with DAPI. Scale bars: 100 µm. (B) Karyotype analysis of two clones of control and patient iPSCs showing no detectable aberration in chromosomes number and structure. (C) Two selected clones of control and patient iPSC were expanded and adapted to grow without feeder layer for at least 5 passages. The maintenance of the undifferentiated phenotype was assessed by immunofluorescence for stemness marker expression as in panel A. Scale bars: 50 µm.